ORPHA:93439
Campomelic dysplasia and related disorders
Synonyms: Bent bone dysplasia
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Campomelic dysplasia and related disorders | Bent bone dysplasia |
| fr | Dysplasie campomélique et maladies associées | Dysplasie osseuse avec incurvation des membres |
| de | Kampomele Dysplasie und verwandte Krankheiten | Dysplasie mit gekrümmten Knochen |
| es | Displasia campomélica y trastornos relacionados | Displasia de huesos curvados |
| it | Displasia con ossa incurvate | |
| nl | Campomele dysplasie en gerelateerde stoornissen | Gebogen bot-dysplasie |
| pt | Displasia de ossos arqueados | |
| pl | Dysplazja wygiętych kości | = en |
| cs | Dysplázie ohnutých kostí | = en |
| uk | Кампомелічна дисплазія та повязані з нею розлади | Дисплазія зігнутих кісток |
| zh | 躯干发育异常及相关疾病 | 弯骨发育不良 |
| tr | Kampomelik displazi ve ilgili bozukluklar | Bükülmüş kemik displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614592 | BTNT | validated | |
| OMIM | 620076 | BTNT | validated | |
| MONDO | 0019698 | E | validated | |
| UMLS | C0432238 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (9):
- ORPHA:656283Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
- ORPHA:2768Blount disease
- ORPHA:1318Campomelia, Cumming type
- ORPHA:140Campomelic dysplasia
- ORPHA:313855FGFR2-related bent bone dysplasia
- ORPHA:1801Kyphomelic dysplasia
- ORPHA:324307Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
- ORPHA:3206Stüve-Wiedemann syndrome
- ORPHA:3344Weismann-Netter syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:2292OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93439
- This record as JSON: /data/d/93439.json